Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABHD10 0 genome.wustl.edu 37 3 111700647 111700647 + Silent SNP G G A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 3 111700647 111700647 G A SNP ABHD10 ENST00000273359 human ensembl 69_37n +1 known silent c.159 p.T53 0.998 NULL pfam_AB_hydrolase_1,pfam_Peptidase_S9 - no_errors ABHD10 HGNC ENSG00000144827 66 0 0.00 54 10 15.62 - - - ACADSB 0 genome.wustl.edu 37 10 124800027 124800027 + Missense_Mutation SNP T T C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 10 124800027 124800027 T C SNP ACADSB ENST00000358776 human ensembl 69_37n +1 known missense c.349 p.S117P 1.000 pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 56 0 0.00 70 16 18.60 - - - ADAMTS6 0 genome.wustl.edu 37 5 64521997 64521997 + Silent SNP G G A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 5 64521997 64521997 G A SNP ADAMTS6 ENST00000381055 human ensembl 69_37n -1 known silent c.1983 p.F661 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 58 0 0.00 40 6 13.04 - - - ANKAR 0 genome.wustl.edu 37 2 190602503 190602503 + Missense_Mutation SNP T T C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 2 190602503 190602503 T C SNP ANKAR ENST00000313581 human ensembl 69_37n +1 known missense c.3518 p.I1173T 0.370 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 44 0 0.00 39 6 13.33 - - - ARRDC4 0 genome.wustl.edu 37 15 98513169 98513169 + Missense_Mutation SNP C C G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 15 98513169 98513169 C G SNP ARRDC4 ENST00000268042 human ensembl 69_37n +1 known missense c.939 p.I313M 0.990 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC4 HGNC ENSG00000140450 81 0 0.00 28 9 24.32 - - - ASNSD1 0 genome.wustl.edu 37 2 190531309 190531309 + Missense_Mutation SNP G G T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 2 190531309 190531309 G T SNP ASNSD1 ENST00000260952 human ensembl 69_37n +1 known missense c.451 p.G151C 0.000 NULL pfam_Asn_synthase - no_errors ASNSD1 HGNC ENSG00000138381 46 0 0.00 49 12 19.67 - - - ASPM 0 genome.wustl.edu 37 1 197112485 197112485 + Silent SNP G G T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 1 197112485 197112485 G T SNP ASPM ENST00000367409 human ensembl 69_37n -1 known silent c.897 p.T299 0.085 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 47 0 0.00 28 15 34.88 - - - BBS9 0 genome.wustl.edu 37 7 33407469 33407469 + Missense_Mutation SNP C C A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 7 33407469 33407469 C A SNP BBS9 ENST00000242067 human ensembl 69_37n +1 known missense c.1784 p.T595N 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 113 0 0.00 118 17 12.59 - - - BDP1 0 genome.wustl.edu 37 5 70858139 70858139 + Missense_Mutation SNP G G C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 5 70858139 70858139 G C SNP BDP1 ENST00000358731 human ensembl 69_37n +1 known missense c.7535 p.C2512S 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 58 0 0.00 41 9 18.00 - - - C1orf50 0 genome.wustl.edu 37 1 43240518 43240518 + Nonsense_Mutation SNP T T G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 1 43240518 43240518 T G SNP C1orf50 ENST00000372525 human ensembl 69_37n +1 known nonsense c.393 p.Y131* 0.999 pfam_DUF2452 pfam_DUF2452,superfamily_Cytidine_deaminase-like - no_errors C1orf50 HGNC ENSG00000164008 52 0 0.00 43 6 12.24 - - - C22orf43 0 genome.wustl.edu 37 22 23959793 23959793 + Missense_Mutation SNP T T A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 22 23959793 23959793 T A SNP C22orf43 ENST00000317749 human ensembl 69_37n -1 known missense c.488 p.D163V 0.000 NULL NULL - no_errors C22orf43 HGNC ENSG00000189269 84 0 0.00 55 12 17.91 - - - CA9 0 genome.wustl.edu 37 9 35674262 35674264 + In_Frame_Del DEL AGA AGA - TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 9 35674262 35674264 AGA - DEL CA9 ENST00000378357 human ensembl 69_37n +1 known in_frame_del c.306_308 p.E105in_frame_del 0.103:0.045:0.000 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 47 0 0.00 35 8 17.78 - - - CCDC168 0 genome.wustl.edu 37 13 103386366 103386366 + Missense_Mutation SNP G G C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 13 103386366 103386366 G C SNP CCDC168 ENST00000322527 human ensembl 69_37n -1 known missense c.2794 p.P932A 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 41 0 0.00 21 9 30.00 - - - CNTNAP1 0 genome.wustl.edu 37 17 40837256 40837256 + Missense_Mutation SNP A A G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 17 40837256 40837256 A G SNP CNTNAP1 ENST00000264638 human ensembl 69_37n +1 known missense c.533 p.D178G 1.000 superfamily_ConA-like_lec_gl,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 58 0 0.00 41 6 12.50 - - - CNTRL 0 genome.wustl.edu 37 9 123922561 123922561 + Missense_Mutation SNP G G T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 9 123922561 123922561 G T SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known missense c.5070 p.Q1690H 0.964 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 32 0 0.00 16 7 30.43 - - - COL22A1 0 genome.wustl.edu 37 8 139890331 139890331 + Missense_Mutation SNP C C T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 8 139890331 139890331 C T SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known missense c.320 p.R107H 0.031 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 17 0 0.00 14 6 30.00 - - - CROCCP2 0 genome.wustl.edu 37 1 16950261 16950261 + RNA SNP G G C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 1 16950261 16950261 G C SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.687 - - - no_errors CROCCP2 HGNC ENSG00000215908 13 0 0.00 17 6 26.09 - - - CRTAM 0 genome.wustl.edu 37 11 122738263 122738263 + Missense_Mutation SNP G G C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 11 122738263 122738263 G C SNP CRTAM ENST00000227348 human ensembl 69_37n +1 known missense c.964 p.E322Q 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors CRTAM HGNC ENSG00000109943 58 0 0.00 44 10 18.52 - - - CUL4A 0 genome.wustl.edu 37 13 113914970 113914970 + Missense_Mutation SNP A A G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 13 113914970 113914970 A G SNP CUL4A ENST00000375440 human ensembl 69_37n +1 known missense c.2081 p.Y694C 1.000 pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4A HGNC ENSG00000139842 55 0 0.00 41 11 21.15 - - - CYP4A11 0 genome.wustl.edu 37 1 47395875 47395875 + Missense_Mutation SNP A A G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 1 47395875 47395875 A G SNP CYP4A11 ENST00000371904 human ensembl 69_37n -1 known missense c.1475 p.I492T 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A11 HGNC ENSG00000187048 85 0 0.00 54 10 15.62 - - - DBP 0 genome.wustl.edu 37 19 49140184 49140184 + Frame_Shift_Del DEL G G - TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 19 49140184 49140184 G - DEL DBP ENST00000222122 human ensembl 69_37n -1 known frame_shift_del c.68 p.P23fs 1.000 NULL pfam_bZIP_2,smart_bZIP,pfscan_bZIP - no_errors DBP HGNC ENSG00000105516 26 0 0.00 9 7 41.18 - - - DCAF13 0 genome.wustl.edu 37 8 104438284 104438284 + Missense_Mutation SNP G G C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 8 104438284 104438284 G C SNP DCAF13 ENST00000297579 human ensembl 69_37n +1 known missense c.835 p.V279L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 61 0 0.00 40 11 21.57 - - - DMD 0 genome.wustl.edu 37 X 32364150 32364150 + Missense_Mutation SNP G G T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 X 32364150 32364150 G T SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.5496 p.D1832E 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 99 0 0.00 109 32 22.70 - - - DNAH2 0 genome.wustl.edu 37 17 7733717 7733718 + Frame_Shift_Del DEL CT CT - TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 17 7733717 7733718 CT - DEL DNAH2 ENST00000389173 human ensembl 69_37n +1 known frame_shift_del c.11953_11954 p.C3986fs 1.000:1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 55 0 0.00 24 19 44.19 - - - DNAI1 0 genome.wustl.edu 37 9 34506808 34506808 + Missense_Mutation SNP C C T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 9 34506808 34506808 C T SNP DNAI1 ENST00000242317 human ensembl 69_37n +1 known missense c.1247 p.P416L 0.946 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 40 0 0.00 37 8 17.78 - - - ESF1 0 genome.wustl.edu 37 20 13756551 13756551 + Nonsense_Mutation SNP C C A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 20 13756551 13756551 C A SNP ESF1 ENST00000202816 human ensembl 69_37n -1 known nonsense c.1003 p.E335* 1.000 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 105 0 0.00 61 13 17.57 - - - ESYT2 0 genome.wustl.edu 37 7 158555812 158555812 + Silent SNP G G T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 7 158555812 158555812 G T SNP ESYT2 ENST00000251527 human ensembl 69_37n -1 known silent c.1290 p.L430 0.996 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors ESYT2 HGNC ENSG00000117868 73 0 0.00 96 15 13.51 - - - EXO1 0 genome.wustl.edu 37 1 242015696 242015699 + Frame_Shift_Del DEL AGAG AGAG - TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 AGAG AGAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 1 242015696 242015699 AGAG - DEL EXO1 ENST00000348581 human ensembl 69_37n +1 known frame_shift_del c.264_267 p.E89fs 0.979:1.000:1.000:0.989 pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N,prints_XPGC_Rad_DNA_repair pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors EXO1 HGNC ENSG00000174371 92 0 0.00 48 6 11.11 - - - FAM179B 0 genome.wustl.edu 37 14 45473547 45473547 + Silent SNP T T A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 14 45473547 45473547 T A SNP FAM179B ENST00000361577 human ensembl 69_37n +1 known silent c.2622 p.S874 0.120 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 48 0 0.00 44 10 18.52 - - - FN1 0 genome.wustl.edu 37 2 216236841 216236841 + Missense_Mutation SNP G G T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 2 216236841 216236841 G T SNP FN1 ENST00000354785 human ensembl 69_37n -1 known missense c.6505 p.P2169T 0.992 NULL pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 102 0 0.00 73 18 19.78 - - - FSHR 0 genome.wustl.edu 37 2 49210108 49210108 + Missense_Mutation SNP T T A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 2 49210108 49210108 T A SNP FSHR ENST00000406846 human ensembl 69_37n -1 known missense c.611 p.N204I 0.965 pfam_Leu-rich_rpt,prints_FSH_rcpt,prints_TSH_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_supfam,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 57 0 0.00 44 19 30.16 - - - GPS2 0 genome.wustl.edu 37 17 7217257 7217258 + Frame_Shift_Del DEL CT CT - TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 17 7217257 7217258 CT - DEL GPS2 ENST00000380728 human ensembl 69_37n -1 known frame_shift_del c.448_447 p.R149fs 1.000:1.000 NULL NULL - no_errors GPS2 HGNC ENSG00000132522 85 0 0.00 40 18 30.51 - - - HAUS5 0 genome.wustl.edu 37 19 36110654 36110654 + Missense_Mutation SNP C C T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 19 36110654 36110654 C T SNP HAUS5 ENST00000203166 human ensembl 69_37n +1 known missense c.1400 p.P467L 0.011 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 24 0 0.00 20 4 16.67 - - - HMBS 0 genome.wustl.edu 37 11 118963868 118963869 + Frame_Shift_Ins INS - - GT TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 11 118963868 118963869 - GT INS HMBS ENST00000278715 human ensembl 69_37n +1 known frame_shift_ins c.961_962 p.N322fs 0.029:0.000 superfamily_Porphobilinogen_deaminase_C,pirsf_4pyrrol_synth_OHMeBilane_synth pfam_Porphobilin_deaminase_N,pfam_Porphobilinogen_deaminase_C,superfamily_Porphobilinogen_deaminase_C,pirsf_4pyrrol_synth_OHMeBilane_synth,prints_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth - no_errors HMBS HGNC ENSG00000256269 66 0 0.00 65 10 13.33 - - - HMGCR 0 genome.wustl.edu 37 5 74646180 74646180 + Missense_Mutation SNP A A T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 5 74646180 74646180 A T SNP HMGCR ENST00000287936 human ensembl 69_37n +1 known missense c.761 p.Q254L 1.000 pfam_Patched,tigrfam_HMG_CoA_Rdtase_metazoan pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc - no_errors HMGCR HGNC ENSG00000113161 36 0 0.00 29 13 30.95 - - - HMGCR 0 genome.wustl.edu 37 5 74646181 74646181 + Missense_Mutation SNP G G C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 5 74646181 74646181 G C SNP HMGCR ENST00000287936 human ensembl 69_37n +1 known missense c.762 p.Q254H 1.000 pfam_Patched,tigrfam_HMG_CoA_Rdtase_metazoan pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc - no_errors HMGCR HGNC ENSG00000113161 35 0 0.00 29 13 30.95 - - - HSD3B2 0 genome.wustl.edu 37 1 119962135 119962135 + Missense_Mutation SNP C C G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 1 119962135 119962135 C G SNP HSD3B2 ENST00000369416 human ensembl 69_37n +1 known missense c.237 p.I79M 0.946 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR - no_errors HSD3B2 HGNC ENSG00000203859 76 0 0.00 51 21 29.17 - - - HTRA1 0 genome.wustl.edu 37 10 124273729 124273729 + Missense_Mutation SNP G G A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 10 124273729 124273729 G A SNP HTRA1 ENST00000368984 human ensembl 69_37n +1 known missense c.1297 p.V433I 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C pfam_Peptidase_S1_S6,pfam_PDZ,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_IGFBP-like,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 84 0 0.00 75 22 22.68 - - - IMPA2 0 genome.wustl.edu 37 18 12012174 12012174 + Missense_Mutation SNP C C A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 18 12012174 12012174 C A SNP IMPA2 ENST00000269159 human ensembl 69_37n +1 known missense c.341 p.P114Q 0.999 pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen - no_errors IMPA2 HGNC ENSG00000141401 100 0 0.00 82 14 14.58 - - - KIAA0182 0 genome.wustl.edu 37 16 85689441 85689441 + Missense_Mutation SNP G G A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 16 85689441 85689441 G A SNP KIAA0182 ENST00000253458 human ensembl 69_37n +1 known missense c.907 p.G303R 1.000 NULL pfam_DUF3736 - no_errors KIAA0182 HGNC ENSG00000131149 21 0 0.00 26 7 21.21 - - - KIAA1244 0 genome.wustl.edu 37 6 138599709 138599709 + Missense_Mutation SNP C C A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 6 138599709 138599709 C A SNP KIAA1244 ENST00000251691 human ensembl 69_37n +1 known missense c.2250 p.H750Q 0.098 superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC ENSG00000112379 64 0 0.00 53 7 11.67 - - - LAMB4 0 genome.wustl.edu 37 7 107763589 107763589 + Silent SNP A A T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 7 107763589 107763589 A T SNP LAMB4 ENST00000205386 human ensembl 69_37n -1 known silent c.21 p.L7 0.000 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 89 0 0.00 61 11 15.28 - - - LRP5 0 genome.wustl.edu 37 11 68205945 68205945 + Silent SNP G G A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 11 68205945 68205945 G A SNP LRP5 ENST00000294304 human ensembl 69_37n +1 known silent c.4143 p.P1381 0.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,superfamily_LDrepeatLR_classA_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 80 0 0.00 67 11 14.10 - - - LRSAM1 0 genome.wustl.edu 37 9 130250014 130250014 + Missense_Mutation SNP A A T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 9 130250014 130250014 A T SNP LRSAM1 ENST00000300417 human ensembl 69_37n +1 known missense c.1319 p.N440I 1.000 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 60 0 0.00 44 7 13.73 - - - LYST 0 genome.wustl.edu 37 1 235940493 235940493 + Nonsense_Mutation SNP G G C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 1 235940493 235940493 G C SNP LYST ENST00000389793 human ensembl 69_37n -1 known nonsense c.5330 p.S1777* 0.987 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 151 0 0.00 95 17 15.18 - - - MAN1B1 0 genome.wustl.edu 37 9 140002075 140002075 + Missense_Mutation SNP G G T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 9 140002075 140002075 G T SNP MAN1B1 ENST00000371589 human ensembl 69_37n +1 known missense c.1857 p.W619C 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 46 0 0.00 22 14 38.89 - - - MANSC1 0 genome.wustl.edu 37 12 12496115 12496116 + Frame_Shift_Del DEL AG AG - TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 12 12496115 12496116 AG - DEL MANSC1 ENST00000535902 human ensembl 69_37n -1 known frame_shift_del c.134_133 p.L45fs 0.974:0.973 pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC - no_errors MANSC1 HGNC ENSG00000111261 77 0 0.00 61 13 17.57 - - - MBTPS1 0 genome.wustl.edu 37 16 84115459 84115459 + Missense_Mutation SNP G G C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 16 84115459 84115459 G C SNP MBTPS1 ENST00000343411 human ensembl 69_37n -1 known missense c.1341 p.I447M 0.227 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 55 0 0.00 36 7 16.28 - - - MYT1 0 genome.wustl.edu 37 20 62859285 62859285 + Missense_Mutation SNP C C A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 20 62859285 62859285 C A SNP MYT1 ENST00000536311 human ensembl 69_37n +1 known missense c.2717 p.A906E 0.949 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 75 0 0.00 82 19 18.81 - - - NES 0 genome.wustl.edu 37 1 156641877 156641877 + Missense_Mutation SNP C C A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 1 156641877 156641877 C A SNP NES ENST00000368223 human ensembl 69_37n -1 known missense c.2103 p.R701S 0.016 NULL pfam_F - no_errors NES HGNC ENSG00000132688 63 0 0.00 71 8 10.13 - - - NKAIN3 0 genome.wustl.edu 37 8 63659492 63659492 + Missense_Mutation SNP A A T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 8 63659492 63659492 A T SNP NKAIN3 ENST00000328472 human ensembl 69_37n +1 known missense c.275 p.D92V 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN3 HGNC ENSG00000185942 97 0 0.00 72 12 14.29 - - - OR52J3 0 genome.wustl.edu 37 11 5068215 5068215 + Missense_Mutation SNP C C T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 11 5068215 5068215 C T SNP OR52J3 ENST00000380370 human ensembl 69_37n +1 known missense c.460 p.P154S 0.004 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR52J3 HGNC ENSG00000205495 98 0 0.00 58 14 19.44 - - - PCDHGA11 0 genome.wustl.edu 37 5 140801206 140801206 + Missense_Mutation SNP G G A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 5 140801206 140801206 G A SNP PCDHGA11 ENST00000398587 human ensembl 69_37n +1 known missense c.412 p.E138K 0.460 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 35 0 0.00 29 5 14.71 - - - PIGA 0 genome.wustl.edu 37 X 15343249 15343249 + Missense_Mutation SNP G G A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 X 15343249 15343249 G A SNP PIGA ENST00000333590 human ensembl 69_37n -1 known missense c.874 p.H292Y 1.000 pfam_Glyco_trans_1 pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC ENSG00000165195 70 0 0.00 80 16 16.67 - - - PIWIL1 0 genome.wustl.edu 37 12 130839528 130839528 + Nonsense_Mutation SNP C C T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 12 130839528 130839528 C T SNP PIWIL1 ENST00000245255 human ensembl 69_37n +1 known nonsense c.1267 p.R423* 0.046 superfamily_RNaseH-like_dom,superfamily_PAZ pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 79 0 0.00 78 10 11.36 - - - PKHD1L1 0 genome.wustl.edu 37 8 110510689 110510690 + Splice_Site DEL AG AG - TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 8 110510689 110510690 AG - DEL PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known splice_site_del c.10600-2_10600-1 e66-1 0.996:1.000 - - - no_errors PKHD1L1 HGNC ENSG00000205038 96 0 0.00 87 10 10.31 - - - PKHD1L1 0 genome.wustl.edu 37 8 110510689 110510690 + Splice_Site DEL AG AG - TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 8 110510689 110510690 AG 0 DEL PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known splice_site_del c.10600-2_10600-1 e66-1 0.996:1.000 - - - no_errors PKHD1L1 HGNC ENSG00000205038 96 0 0 87 10 10.31 - - - PKHD1L1 0 genome.wustl.edu 37 8 110527423 110527423 + Missense_Mutation SNP T T C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 8 110527423 110527423 T C SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.11578 p.S3860P 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 107 0 0.00 71 21 22.83 - - - PLCG2 0 genome.wustl.edu 37 16 81953183 81953183 + Missense_Mutation SNP G G A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 16 81953183 81953183 G A SNP PLCG2 ENST00000359376 human ensembl 69_37n +1 known missense c.2149 p.V717I 1.000 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,prints_SH2,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCG2 HGNC ENSG00000197943 50 0 0.00 48 7 12.73 - - - POLR2B 0 genome.wustl.edu 37 4 57881680 57881681 + Frame_Shift_Del DEL AG AG - TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 4 57881680 57881681 AG - DEL POLR2B ENST00000314595 human ensembl 69_37n +1 known frame_shift_del c.1813_1814 p.D606fs 1.000:1.000 pfam_RNA_pol_Rpb2_4 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 60 0 0.00 57 7 10.94 - - - PRKD1 0 genome.wustl.edu 37 14 30108065 30108065 + Missense_Mutation SNP T T C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 14 30108065 30108065 T C SNP PRKD1 ENST00000331968 human ensembl 69_37n -1 known missense c.742 p.N248D 0.983 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 78 0 0.00 73 10 12.05 - - - PRPF6 0 genome.wustl.edu 37 20 62630991 62630991 + Missense_Mutation SNP T T A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 20 62630991 62630991 T A SNP PRPF6 ENST00000266079 human ensembl 69_37n +1 known missense c.902 p.V301D 1.000 smart_HAT pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 42 0 0.00 35 13 26.53 - - - PTEN 0 genome.wustl.edu 37 10 89624279 89624280 + Frame_Shift_Ins INS - - G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 10 89624279 89624280 - G INS PTEN ENST00000371953 human ensembl 69_37n +1 known frame_shift_ins c.53_54 p.D19fs 1.000:1.000 pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 116 0 0.00 78 18 18.75 - - - PTEN 0 genome.wustl.edu 37 10 89692935 89692935 + Nonsense_Mutation SNP T T G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 10 89692935 89692935 T G SNP PTEN ENST00000371953 human ensembl 69_37n +1 known nonsense c.419 p.L140* 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 49 0 0.00 64 18 21.95 - - - RAI1 0 genome.wustl.edu 37 17 17699094 17699095 + Frame_Shift_Del DEL CT CT - TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 17 17699094 17699095 CT - DEL RAI1 ENST00000353383 human ensembl 69_37n +1 known frame_shift_del c.2832_2833 p.L946fs 0.986:0.999 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 23 0 0.00 16 5 23.81 - - - RAPGEF6 0 genome.wustl.edu 37 5 130840456 130840456 + Nonsense_Mutation SNP G G A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 5 130840456 130840456 G A SNP RAPGEF6 ENST00000509018 human ensembl 69_37n -1 known nonsense c.1117 p.Q373* 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 89 0 0.00 63 11 14.86 - - - RNF19A 0 genome.wustl.edu 37 8 101272137 101272137 + Missense_Mutation SNP C C T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 8 101272137 101272137 C T SNP RNF19A ENST00000341084 human ensembl 69_37n -1 known missense c.1771 p.A591T 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 47 0 0.00 43 9 17.31 - - - RPGR 0 genome.wustl.edu 37 X 38146288 38146288 + Missense_Mutation SNP C C T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 X 38146288 38146288 C T SNP RPGR ENST00000378505 human ensembl 69_37n -1 known missense c.1964 p.G655E 0.000 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 216 0 0.00 250 35 12.24 - - - RRN3P1 0 genome.wustl.edu 37 16 21809167 21809167 + RNA SNP G G A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 16 21809167 21809167 G A SNP RRN3P1 ENST00000546471 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RRN3P1 HGNC ENSG00000248124 16 0 0.00 13 12 48.00 - - - RTEL1 0 genome.wustl.edu 37 20 62319309 62319309 + Nonsense_Mutation SNP G G T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 20 62319309 62319309 G T SNP RTEL1 ENST00000318100 human ensembl 69_37n +1 known nonsense c.1501 p.E501* 1.000 tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 35 0 0.00 40 8 16.67 - - - RTN4 0 genome.wustl.edu 37 2 55253974 55253974 + Missense_Mutation SNP C C G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 2 55253974 55253974 C G SNP RTN4 ENST00000337526 human ensembl 69_37n -1 known missense c.1261 p.D421H 0.985 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 114 0 0.00 95 29 23.39 - - - SCG3 0 genome.wustl.edu 37 15 51991585 51991585 + Missense_Mutation SNP G G T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 15 51991585 51991585 G T SNP SCG3 ENST00000220478 human ensembl 69_37n +1 known missense c.1055 p.S352I 1.000 NULL NULL - no_errors SCG3 HGNC ENSG00000104112 93 0 0.00 54 16 22.86 - - - SEC23A 0 genome.wustl.edu 37 14 39517903 39517903 + Missense_Mutation SNP C C T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 14 39517903 39517903 C T SNP SEC23A ENST00000307712 human ensembl 69_37n -1 known missense c.1690 p.D564N 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 78 0 0.00 78 12 13.33 - - - SLC25A51 0 genome.wustl.edu 37 9 37888181 37888181 + Missense_Mutation SNP C C T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 9 37888181 37888181 C T SNP SLC25A51 ENST00000242275 human ensembl 69_37n -1 known missense c.367 p.V123M 0.173 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A51 HGNC ENSG00000122696 75 0 0.00 52 17 24.64 - - - SLC2A1 0 genome.wustl.edu 37 1 43396749 43396749 + Silent SNP G G A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 1 43396749 43396749 G A SNP SLC2A1 ENST00000426263 human ensembl 69_37n -1 known silent c.243 p.F81 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 73 0 0.00 56 11 16.42 - - - SLC3A2 0 genome.wustl.edu 37 11 62652967 62652967 + Missense_Mutation SNP T T G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 11 62652967 62652967 T G SNP SLC3A2 ENST00000377892 human ensembl 69_37n +1 known missense c.1426 p.L476V 0.337 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 137 0 0.00 66 43 39.09 - - - SORL1 0 genome.wustl.edu 37 11 121477957 121477957 + Silent SNP A A T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 11 121477957 121477957 A T SNP SORL1 ENST00000260197 human ensembl 69_37n +1 known silent c.5124 p.T1708 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors SORL1 HGNC ENSG00000137642 62 0 0.00 34 22 39.29 - - - SOX13 0 genome.wustl.edu 37 1 204085649 204085649 + Missense_Mutation SNP C C A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 1 204085649 204085649 C A SNP SOX13 ENST00000367204 human ensembl 69_37n +1 known missense c.433 p.L145I 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX13 HGNC ENSG00000143842 53 0 0.00 36 20 35.71 - - - SRSF11 0 genome.wustl.edu 37 1 70716046 70716046 + Splice_Site SNP A A T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 1 70716046 70716046 A T SNP SRSF11 ENST00000370950 human ensembl 69_37n +1 known splice_site c.1119-2 e11-2 1.000 - - - no_errors SRSF11 HGNC ENSG00000116754 137 0 0 110 13 10.57 - - - SRSF11 0 genome.wustl.edu 37 1 70716046 70716046 + Splice_Site SNP A A T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 1 70716046 70716046 A T SNP SRSF11 ENST00000370950 human ensembl 69_37n +1 known splice_site c.1119-2 e11-2 1.000 - - - no_errors SRSF11 HGNC ENSG00000116754 137 0 0.00 110 13 10.57 - - - TACC3 0 genome.wustl.edu 37 4 1725222 1725222 + Missense_Mutation SNP C C T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 4 1725222 1725222 C T SNP TACC3 ENST00000313288 human ensembl 69_37n +1 known missense c.74 p.S25L 0.021 NULL pfam_TACC - no_errors TACC3 HGNC ENSG00000013810 62 0 0.00 20 7 25.93 - - - TBX5 0 genome.wustl.edu 37 12 114804031 114804031 + Silent SNP T T A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 12 114804031 114804031 T A SNP TBX5 ENST00000310346 human ensembl 69_37n -1 known silent c.921 p.P307 0.086 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 117 0 0.00 78 15 16.13 - - - TIMM8A 0 genome.wustl.edu 37 X 100603573 100603573 + Missense_Mutation SNP G G T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 X 100603573 100603573 G T SNP TIMM8A ENST00000372902 human ensembl 69_37n -1 known missense c.80 p.T27N 0.998 pfam_Tim8/9/10/13_Znf-like,superfamily_Tim8/9/10/13_Znf-like pfam_Tim8/9/10/13_Znf-like,superfamily_Tim8/9/10/13_Znf-like - no_errors TIMM8A HGNC ENSG00000126953 61 0 0.00 51 13 20.31 - - - TMEM120A 0 genome.wustl.edu 37 7 75617649 75617649 + RNA SNP C C T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 7 75617649 75617649 C T SNP TMEM120A ENST00000338761 human ensembl 69_37n -1 known rna NULL NULL 0.849 - - - no_errors TMEM120A HGNC ENSG00000189077 38 0 0.00 41 12 22.64 - - - TMTC2 0 genome.wustl.edu 37 12 83250926 83250926 + Missense_Mutation SNP G G A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 12 83250926 83250926 G A SNP TMTC2 ENST00000321196 human ensembl 69_37n +1 known missense c.221 p.R74H 1.000 NULL pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 104 0 0.00 60 11 15.49 - - - TP53 0 genome.wustl.edu 37 17 7577058 7577058 + Nonsense_Mutation SNP C C A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 17 7577058 7577058 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known nonsense c.880 p.E294* 0.015 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 95 0 0.00 41 20 32.26 - - - TTI2 0 genome.wustl.edu 37 8 33369846 33369847 + Frame_Shift_Ins INS - - G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 8 33369846 33369847 - G INS TTI2 ENST00000360742 human ensembl 69_37n -1 known frame_shift_ins c.286_285 p.S95fs 0.000:0.001 NULL pfam_DUF2454,superfamily_ARM-type_fold - no_errors TTI2 HGNC ENSG00000129696 34 0 0.00 26 7 21.21 - - - UBC 0 genome.wustl.edu 37 12 125396335 125396337 + In_Frame_Del DEL TCC TCC - TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 12 125396335 125396337 TCC - DEL UBC ENST00000339647 human ensembl 69_37n -1 known in_frame_del c.1983_1981 p.G661in_frame_del 0.860:1.000:1.000 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBC HGNC ENSG00000150991 107 0 0.00 65 21 23.86 - - - USP9X 0 genome.wustl.edu 37 X 41075620 41075620 + Missense_Mutation SNP A A C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 X 41075620 41075620 A C SNP USP9X ENST00000324545 human ensembl 69_37n +1 known missense c.5800 p.M1934L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 103 0 0.00 112 17 13.18 - - - VAPA 0 genome.wustl.edu 37 18 9954080 9954080 + Missense_Mutation SNP C C G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 18 9954080 9954080 C G SNP VAPA ENST00000340541 human ensembl 69_37n +1 known missense c.757 p.H253D 1.000 pirsf_Vesicle-associated_membrane pfam_Major_sperm,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_Major_sperm - no_errors VAPA HGNC ENSG00000101558 144 0 0.00 71 26 26.53 - - - VCAN 0 genome.wustl.edu 37 5 82834915 82834915 + Missense_Mutation SNP A A T TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 5 82834915 82834915 A T SNP VCAN ENST00000265077 human ensembl 69_37n +1 known missense c.6093 p.Q2031H 0.003 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 75 0 0.00 44 7 13.73 - - - WDR6 0 genome.wustl.edu 37 3 49050384 49050384 + Missense_Mutation SNP G G C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 3 49050384 49050384 G C SNP WDR6 ENST00000395474 human ensembl 69_37n +1 known missense c.1507 p.G503R 0.904 superfamily_Quino_amine_DH_bsu pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 44 0 0.00 26 17 39.53 - - - ZBBX 0 genome.wustl.edu 37 3 166958696 166958696 + Missense_Mutation SNP C C G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 3 166958696 166958696 C G SNP ZBBX ENST00000307529 human ensembl 69_37n -1 known missense c.2405 p.R802T 0.986 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 77 0 0.00 48 29 37.66 - - - ZBTB38 0 genome.wustl.edu 37 3 141162042 141162042 + Missense_Mutation SNP T T G TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 3 141162042 141162042 T G SNP ZBTB38 ENST00000321464 human ensembl 69_37n +1 known missense c.815 p.I272R 0.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 41 0 0.00 22 8 26.67 - - - ZC3H13 0 genome.wustl.edu 37 13 46549769 46549770 + Frame_Shift_Del DEL TC TC - TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 13 46549769 46549770 TC - DEL ZC3H13 ENST00000242848 human ensembl 69_37n -1 known frame_shift_del c.2117_2116 p.E706fs 0.966:1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 163 0 0.00 137 25 15.43 - - - ZNF319 0 genome.wustl.edu 37 16 58030938 58030938 + Missense_Mutation SNP G G A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 16 58030938 58030938 G A SNP ZNF319 ENST00000299237 human ensembl 69_37n -1 known missense c.1232 p.S411F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 50 0 0.00 30 11 26.83 - - - ZNF615 0 genome.wustl.edu 37 19 52496796 52496796 + Silent SNP G G C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 19 52496796 52496796 G C SNP ZNF615 ENST00000391795 human ensembl 69_37n -1 known silent c.1548 p.P516 0.511 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF615 HGNC ENSG00000197619 77 0 0.00 48 9 15.79 - - - ZNF644 0 genome.wustl.edu 37 1 91404518 91404518 + Missense_Mutation SNP T T C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 1 91404518 91404518 T C SNP ZNF644 ENST00000337393 human ensembl 69_37n -1 known missense c.2393 p.E798G 0.989 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 36 0 0.00 31 8 20.51 - - - ZNF804B 0 genome.wustl.edu 37 7 88956723 88956724 + Frame_Shift_Ins INS - - A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 7 88956723 88956724 - A INS ZNF804B ENST00000333190 human ensembl 69_37n +1 known frame_shift_ins c.315_316 p.Q107fs 0.992:1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 86 0 0.00 45 26 36.62 - - - ZNF91 0 genome.wustl.edu 37 19 23544004 23544004 + Nonsense_Mutation SNP T T A TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c13e05b6-0b3e-4c1f-800e-4a49c5d417aa 7bba57a5-c11e-43a2-ab14-5b33f5afa6d9 19 23544004 23544004 T A SNP ZNF91 ENST00000300619 human ensembl 69_37n -1 known nonsense c.1777 p.K593* 0.091 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 35 0 0.00 30 4 11.76 - - -